Individuals compound heterozygous for TYR p.(Met252Arg) and p.(Ser192Tyr)/p.(Arg402Gln) alleles displayed clinical features suggestive of partial albinism with variable skin and hair depigmentation, while the individual homozygous for the TYR p.(Met252Arg) variant displayed features of classical OCA including nystagmus, iris transillumination defects, a depigmented fundus and foveal hypoplasia (Table 1). This evidence concerns the gene TYR and pathologic nystagmus.